Results 41 to 50 of about 459 (116)

Novel AK-1 gene variants combined with thalassemia causing rare hereditary non-spherocytic hemolytic anemia in a Chinese family. [PDF]

Ann Hematol
Chen L, Wei X, Zheng C, Liu X, Huang J, Zhang M, Chen H, Que Y, Tang N, Yuan D, Zhong Q.   +10 more
europepmc   +1 more source

Updates and advances in pyruvate kinase deficiency. [PDF]

Trends Mol Med, 2023
Luke N, Hillier K, Al-Samkari H, Grace RF.   +3 more
europepmc   +1 more source

Mitapivat for Acquired Pyruvate Kinase Deficiency. [PDF]

Pediatr Blood Cancer
Al-Samkari H.
europepmc   +1 more source

Hereditary disorders of ineffective erythropoiesis. [PDF]

Blood Cells Mol Dis
King RA, Khoriaty R.
europepmc   +1 more source

Unique Variant of Zieve Syndrome With a Normal Reticulocyte Count. [PDF]

J Med Cases, 2023
Vedire A, Imburgio S, Sanekommu H, Patel R, Johnson H, Taj S, Hossain M.   +6 more
europepmc   +1 more source

Enzymatic Anomaly of Erythrocytes in Congenital Nonspherocytic Hemolytic Anemia

The Tohoku Journal of Experimental Medicine, 1961
openaire   +2 more sources

A Case of Horizontal Gaze Palsy With Progressive Scoliosis and G6PD Deficiency in a Child. [PDF]

Cureus
Kaur P, Yadav S.
europepmc   +1 more source

Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency. [PDF]

Blood Adv, 2022
Al-Samkari H, van Beers EJ, Morton DH, Eber SW, Chonat S, Kuo KHM, Kollmar N, Wang H, Breakey VR, Sheth S, Sharma M, Forbes PW, Klaassen RJ, Grace RF.   +13 more
europepmc   +1 more source

Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report. [PDF]

J Med Case Rep
Holme S, van Wijk R, Rasmussen AØ, Petersen J, Glenthøj A.   +4 more
europepmc   +1 more source

Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination. [PDF]

Diagnostics (Basel), 2023
Kim N, Kim TY, Han JY, Park J.
europepmc   +1 more source